Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Cd34'

594830

Institutional Source

Beutler Lab

Gene Symbol

Cd34

Ensembl Gene

ENSMUSG00000016494

Gene Name

CD34 antigen

Synonyms

MMRRC Submission

045773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

194621239-194643587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 194631624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 87 (N87Y)

Ref Sequence

ENSEMBL: ENSMUSP00000016638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016638] [ENSMUST00000110815]

AlphaFold

Q64314

Predicted Effect

probably damaging
Transcript: ENSMUST00000016638
AA Change: N87Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000016638
Gene: ENSMUSG00000016494
AA Change: N87Y

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	156	167	N/A	INTRINSIC
Pfam:CD34_antigen	187	382	2.3e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110815
AA Change: N87Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106439
Gene: ENSMUSG00000016494
AA Change: N87Y

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	156	167	N/A	INTRINSIC
Pfam:CD34_antigen	187	325	3.5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194036

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a null allele show decreased splenocyte number and hematopoietic defects. Homozygotes for another null allele show reduced eosinophil accumulation after allergen exposure, impaired TPA-induced hair follicle stem cell activation and reduced incidence of chemically-induced skin tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,659 (GRCm39)	F57L	probably benign	Het
Agl	C	T	3: 116,551,905 (GRCm39)	R563Q		Het
Ahctf1	A	G	1: 179,598,413 (GRCm39)	M919T	probably benign	Het
Ano4	A	T	10: 88,831,173 (GRCm39)	N483K	probably damaging	Het
Armt1	A	G	10: 4,400,751 (GRCm39)	K166R	probably benign	Het
Asgr2	T	C	11: 69,987,721 (GRCm39)	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,791,262 (GRCm39)	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,530,622 (GRCm39)	T150A	possibly damaging	Het
Bach1	A	G	16: 87,516,859 (GRCm39)	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,414,471 (GRCm39)	K395E	probably benign	Het
Cadps	G	A	14: 12,457,762 (GRCm38)	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Canx	A	G	11: 50,201,631 (GRCm39)	S80P	probably benign	Het
Ccdc149	T	A	5: 52,561,533 (GRCm39)		probably null	Het
Cdh11	T	A	8: 103,391,346 (GRCm39)	I297F	possibly damaging	Het
Cfap251	A	G	5: 123,400,197 (GRCm39)	N439D	probably damaging	Het
Cip2a	A	T	16: 48,834,347 (GRCm39)	Q643L	probably damaging	Het
Col14a1	A	G	15: 55,351,379 (GRCm39)	I1569V	unknown	Het
Cxcr4	C	T	1: 128,517,479 (GRCm39)	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,411,764 (GRCm39)	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,381,120 (GRCm39)	Y79C	probably benign	Het
Daam1	A	G	12: 72,035,675 (GRCm39)	K957E	probably benign	Het
Dip2c	A	G	13: 9,664,427 (GRCm39)	K947E	probably damaging	Het
Efcab12	T	C	6: 115,800,504 (GRCm39)	K173R	possibly damaging	Het
Emc1	C	T	4: 139,098,934 (GRCm39)	R806C	probably damaging	Het
Epg5	G	A	18: 78,011,801 (GRCm39)	R816Q	probably damaging	Het
Faf1	G	T	4: 109,568,011 (GRCm39)	D24Y	probably damaging	Het
Fchsd1	A	T	18: 38,099,695 (GRCm39)		probably null	Het
Foxp1	T	C	6: 98,922,621 (GRCm39)	T404A	unknown	Het
Fra10ac1	T	C	19: 38,178,286 (GRCm39)	E299G	probably damaging	Het
Gon4l	A	G	3: 88,815,313 (GRCm39)	T1959A	probably benign	Het
Gpam	A	C	19: 55,077,353 (GRCm39)	V146G	probably benign	Het
Hephl1	T	A	9: 14,972,081 (GRCm39)	D953V	probably benign	Het
Kcnc2	G	T	10: 112,107,845 (GRCm39)	E79*	probably null	Het
Kcnj12	T	A	11: 60,957,778 (GRCm39)		probably null	Het
Llgl2	A	T	11: 115,740,554 (GRCm39)	T417S	probably benign	Het
Lrrc17	A	T	5: 21,766,078 (GRCm39)	N187Y	probably damaging	Het
Macc1	C	T	12: 119,409,991 (GRCm39)	A253V	possibly damaging	Het
Mark1	A	G	1: 184,639,431 (GRCm39)	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,448,376 (GRCm39)	L409P	probably damaging	Het
Nek1	A	G	8: 61,459,794 (GRCm39)	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,433,829 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,478,680 (GRCm39)	V686D	probably damaging	Het
Or2l5	C	T	16: 19,333,480 (GRCm39)	R302K	probably benign	Het
Or55b10	T	A	7: 102,143,668 (GRCm39)	M105L	possibly damaging	Het
Or7h8	G	A	9: 20,123,731 (GRCm39)	G29R	probably damaging	Het
Or7h8	G	A	9: 20,123,732 (GRCm39)	G29E	probably benign	Het
Or8c15	T	A	9: 38,120,775 (GRCm39)	M140K	probably benign	Het
Or8g18	A	T	9: 39,149,174 (GRCm39)	L182H	probably damaging	Het
Ostm1	G	A	10: 42,559,183 (GRCm39)	G148R	probably benign	Het
Oxsr1	A	G	9: 119,071,822 (GRCm39)	S470P	probably damaging	Het
Pacs1	C	T	19: 5,191,709 (GRCm39)	M709I	probably benign	Het
Pan2	A	G	10: 128,153,592 (GRCm39)	M963V	probably benign	Het
Pds5a	A	G	5: 65,795,904 (GRCm39)	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,247,889 (GRCm39)	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,317,077 (GRCm39)		probably null	Het
Slc24a4	A	G	12: 102,185,219 (GRCm39)	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,734,640 (GRCm39)	S218P	possibly damaging	Het
Spast	T	A	17: 74,675,921 (GRCm39)	N321K	probably benign	Het
Srcap	T	G	7: 127,148,460 (GRCm39)	I1936S	probably damaging	Het
Themis	G	A	10: 28,739,305 (GRCm39)	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,338,377 (GRCm39)	T296I	possibly damaging	Het
Ttk	A	G	9: 83,747,206 (GRCm39)	T682A	probably benign	Het
Virma	C	T	4: 11,549,682 (GRCm39)	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,177 (GRCm39)	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,195,307 (GRCm39)	V673A	probably damaging	Het
Wbp4	C	T	14: 79,703,734 (GRCm39)	S271N	probably benign	Het

Other mutations in Cd34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Cd34	APN	1	194,642,422 (GRCm39)	missense	probably damaging	1.00
IGL00979:Cd34	APN	1	194,631,816 (GRCm39)	missense	possibly damaging	0.92
IGL01762:Cd34	APN	1	194,621,341 (GRCm39)	missense	probably benign	0.07
IGL01861:Cd34	APN	1	194,640,888 (GRCm39)	unclassified	probably benign
IGL03227:Cd34	APN	1	194,640,771 (GRCm39)	missense	probably damaging	1.00
R0628:Cd34	UTSW	1	194,641,525 (GRCm39)	missense	probably damaging	1.00
R2057:Cd34	UTSW	1	194,641,450 (GRCm39)	missense	probably damaging	1.00
R2249:Cd34	UTSW	1	194,630,260 (GRCm39)	missense	possibly damaging	0.95
R2435:Cd34	UTSW	1	194,621,334 (GRCm39)	missense	probably damaging	0.96
R4795:Cd34	UTSW	1	194,633,319 (GRCm39)	missense	probably damaging	0.98
R5076:Cd34	UTSW	1	194,630,338 (GRCm39)	intron	probably benign
R5400:Cd34	UTSW	1	194,621,266 (GRCm39)	unclassified	probably benign
R5414:Cd34	UTSW	1	194,630,219 (GRCm39)	missense	probably benign	0.05
R5641:Cd34	UTSW	1	194,630,276 (GRCm39)	missense	probably benign	0.25
R6110:Cd34	UTSW	1	194,631,877 (GRCm39)	splice site	probably null
R6148:Cd34	UTSW	1	194,630,316 (GRCm39)	critical splice donor site	probably null
R6234:Cd34	UTSW	1	194,630,308 (GRCm39)	missense	probably damaging	0.98
R8029:Cd34	UTSW	1	194,640,860 (GRCm39)	missense	probably benign	0.00
R8444:Cd34	UTSW	1	194,640,808 (GRCm39)	missense	probably benign	0.00
R8490:Cd34	UTSW	1	194,621,281 (GRCm39)	missense	probably benign	0.41
R8496:Cd34	UTSW	1	194,642,089 (GRCm39)	missense	probably benign	0.00
R9671:Cd34	UTSW	1	194,641,501 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTTCTAACAGCTGGCTTG -3'
(R):5'- TTAATGGCACTCGGAGCAG -3'

Sequencing Primer
(F):5'- CTAACAGCTGGCTTGAATTGAG -3'
(R):5'- GTGATGTCATCTCAAAGCTGC -3'

Posted On

2019-11-12